Canonical Allele Identifier: CA2320962549

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527865C= , CM000681.2:g.7527865C=	GRCh38
NC_000019.9:g.7592751C= , CM000681.1:g.7592751C=	GRCh37
NC_000019.8:g.7498751C=	NCBI36
NG_015806.1:g.10256C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.682C= MANE Select	ENSP00000264079.5:p.Leu228=
ENST00000264079.10:c.682C=	ENSP00000264079.5:p.Leu228=
ENST00000394321.9:n.997C=
ENST00000601003.1:c.573C=	ENSP00000469074.1:p.Gly191=
NM_020533.2:c.682C=	NP_065394.1:p.Leu228=
NM_020533.3:c.682C= MANE Select	NP_065394.1:p.Leu228=